Table 1 Clinical features of the patients w ith 11q12.3 duplication/triplication
Present patient | Tyson et al. (2005) | Jehee et al. (2007) | ||
|---|---|---|---|---|
(Subject 2) | (Patient 1) | |||
DECIPHER #253705 | ||||
Physical | ||||
short stature | - | + | + | |
microcephaly | - | + | + | |
scoliosis | - | + | N A | |
congenital heart defect | - | + | N A | |
fingers | arachnodactyly | camptodactyly (5th finger) | brachydactyly | |
brachydactyly (5th finger) | clinodactyly (5th finger | |||
broad thumbs | ||||
Face | ||||
upslanting palpebral fissure | - | + | - | |
midface hypoplasia | + | NA | - | |
flat nasal bridge | + | NA | - | |
telecantus | + | NA | - | |
anteverted nare | + | NA | - | |
small nose | + | NA | - | |
long philtrum | + | NA | - | |
low-set and posteriorly rotated ears | + | NA | - | |
preauricular pit | right | + | right | |
high arched palate | + | NA | NA | |
thin lips | + | NA | - | |
micrognathia | + | NA | - | |
Neurological | ||||
developmental delay | + | + | + | |
feeding difficulty | + | NA | NA | |
hypotonia | + | + | NA | |
hypersomnia | + | NA | NA | |
static encephalopathy | - | + | NA | |
Examination | ||||
brain MRI abnormality | - | NA | NA | |
EEG abnormality | - | NA | NA | |
ABR abnormality | - | NA | NA |